G83C (p.Gly83Cys) variant of ATP6V1A (P38606)
G83C (p.Gly83Cys) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G83C (p.Gly83Cys) variant details
- p.Gly83Cys
- gnomAD 3-113784259-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.68
- CADD 26.30
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available